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MLH1 c.1130A>G ;(p.K377R)
Variant ID: 3-37067219-A-G
NM_000249.3(
MLH1
):c.1130A>G;(p.K377R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21
Variant appearance in text: MLH1: 1130A>G; K377R
PubMed Link:
35449176
Variant Present in the following documents:
41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: MLH1: K377R
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page
HDAC6 regulates DNA damage response via deacetylating MLH1.
The Journal Of Biological Chemistry
Zhang, Mu M; Hu, Chen C; Moses, Niko N; Haakenson, Joshua J; Xiang, Shengyan S; Quan, Daniel D; Fang, Bin B; Yang, Zhe Z; Bai, Wenlong W; Bepler, Gerold G; Li, Guo-Min GM; Zhang, Xiaohong Mary XM
Publication Date: 2019-04-12
Variant appearance in text: MLH1: K377R
PubMed Link:
30770470
Variant Present in the following documents:
Main text
View BVdb publication page